Tg(Myh6-MYL2*D94A)1Dsc
Transgene Detail

Summary

• Symbol: Tg(Myh6-MYL2*D94A)1Dsc
• Name: transgene insertion 1, Danuta Szczesna-Cordary
• MGI ID: MGI:6193897
• Synonyms: D94A-L1
• Transgene: Tg(Myh6-MYL2*D94A)1Dsc Location: unknown
• Alliance: Tg(Myh6-MYL2*D94A)1Dsc page

Transgene origin

• Strain of Origin: Not Specified

Transgene description

• Transgene Type: Transgenic (Humanized sequence, Inserted expressed sequence)
• Mutation: Insertion
• Tg(Myh6-MYL2*D94A)1Dsc expresses 1 gene
  Transgene expresses:
  

  Organism

  Expressed Gene

  Homolog in Mouse

  Note

  human

  MYL2 (4633)

  Myl2	(MGI:97272)

  contains D94A mutation seen in patients with dialted cardiomyopathy

• Mutation details: The human ventricular myosin regulatory light chain with an aspartic acid to alanine change at amino acid 94 (D94A) is under the control of the mouse alpha-myosin heavy chain promoter. Two lines, 1 and 2, were generated. Both lines show similar phenotypes and line 1 is entered as the representative line. (J:258888)

Disease models

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available

References

• Original: J:258888 Yuan CC, et al., Sarcomeric perturbations of myosin motors lead to dilated cardiomyopathy in genetically modified MYL2 mice. Proc Natl Acad Sci U S A. 2018 Mar 6;115(10):E2338-E2347
• All: 1 reference(s)